Mutagenetix > Incidental Mutations

Incidental Mutation 'R0136:Itgb1'

21957

Institutional Source

Beutler Lab

Gene Symbol

Itgb1

Ensembl Gene

ENSMUSG00000025809

Gene Name

integrin beta 1 (fibronectin receptor beta)

Synonyms

Gm9863, Fnrb, CD29, 4633401G24Rik, beta1 integrin

MMRRC Submission

038421-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

128685654-128733200 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128722854 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 585 (Y585D)

Ref Sequence

ENSEMBL: ENSMUSP00000087457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090006] [ENSMUST00000124826]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090006
AA Change: Y585D

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087457
Gene: ENSMUSG00000025809
AA Change: Y585D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PSI	26	76	3.01e-7	SMART
INB	34	464	2e-298	SMART
VWA	142	372	1.45e0	SMART
low complexity region	568	581	N/A	INTRINSIC
Pfam:EGF_2	599	630	8.8e-8	PFAM
Integrin_B_tail	640	728	4.58e-37	SMART
transmembrane domain	729	751	N/A	INTRINSIC
Integrin_b_cyt	752	798	3.43e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124826

SMART Domains

Protein: ENSMUSP00000120026
Gene: ENSMUSG00000025809

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDB:3VI4\|D	21	51	2e-16	PDB
Blast:PSI	26	51	1e-11	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000149116

SMART Domains

Protein: ENSMUSP00000119699
Gene: ENSMUSG00000025809

Domain	Start	End	E-Value	Type
Pfam:Integrin_B_tail	1	39	1.9e-12	PFAM
transmembrane domain	40	62	N/A	INTRINSIC
Integrin_b_cyt	63	109	8.77e-25	SMART

Meta Mutation Damage Score

0.8402

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants die at or soon after implantation. Tissue-specific knockouts exhibit skin blisters, hair-loss, brain and heart defects, and impaired immune responses, wound healing, and hematopoietic stem cell migration, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,809,946	M1T	probably null	Het
Arg2	T	C	12: 79,150,006	L167P	probably damaging	Het
Atxn1	A	G	13: 45,567,169	S417P	probably damaging	Het
Baz2b	A	G	2: 59,901,954	V1949A	probably benign	Het
Bcl3	A	G	7: 19,809,569	V324A	probably damaging	Het
Btbd10	A	T	7: 113,329,878	S230T	possibly damaging	Het
Camta1	A	G	4: 151,078,969	S1479P	probably damaging	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Col5a1	T	C	2: 28,024,831	L153P	probably damaging	Het
Crat	C	A	2: 30,407,030	V304L	probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Fau	T	C	19: 6,059,180	V86A	possibly damaging	Het
Garem1	T	G	18: 21,129,991	S589R	probably damaging	Het
Gbp3	T	G	3: 142,564,101		probably null	Het
Gin1	T	A	1: 97,783,016	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,815,416	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,439,293	I517T	probably benign	Het
Hivep2	T	C	10: 14,131,878	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,395,177	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,826,801	L588P	probably damaging	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Kmt2d	C	T	15: 98,854,278		probably benign	Het
Map7d1	A	T	4: 126,236,631		probably null	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Med13l	A	G	5: 118,724,050	T353A	probably benign	Het
Mgat4b	T	C	11: 50,231,081	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,442,306	W211R	probably damaging	Het
Morc2a	T	G	11: 3,685,907		probably null	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Ndufa10	A	T	1: 92,463,128	Y233*	probably null	Het
Nek8	C	T	11: 78,171,207	S237N	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 126,391,335	S165P	probably benign	Het
Nsd2	A	G	5: 33,855,536	K404E	possibly damaging	Het
Nsd3	G	T	8: 25,659,854	E352*	probably null	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Olfr394	T	C	11: 73,887,785	M196V	probably benign	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Olfr983	A	G	9: 40,092,019	*312Q	probably null	Het
Patj	C	A	4: 98,667,648	Q297K	probably damaging	Het
Pelo	A	T	13: 115,088,903	C40*	probably null	Het
Pnpla3	G	A	15: 84,174,478		probably null	Het
Pramel1	C	A	4: 143,397,446	N230K	probably damaging	Het
Psg20	A	C	7: 18,682,507	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,959,821	F44L	probably benign	Het
Sept2	G	A	1: 93,507,050	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,648,931		probably benign	Het
Slc12a8	A	G	16: 33,608,213	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,578,674	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,662,596	F335L	probably benign	Het
Slc26a5	T	C	5: 21,834,347	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,676,205	S144G	probably benign	Het
Spata20	T	A	11: 94,480,609	D643V	probably damaging	Het
Spata24	T	C	18: 35,660,462	K99R	probably damaging	Het
Taar5	A	G	10: 23,971,709	Y335C	probably damaging	Het
Tpr	A	G	1: 150,430,595	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,217,783	Y360*	probably null	Het
Ybx1	C	A	4: 119,282,354	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,297,202	K720E	probably benign	Het
Zfp599	A	G	9: 22,249,742	S376P	probably benign	Het
Zic2	A	G	14: 122,476,541	E289G	probably damaging	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Itgb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Itgb1	APN	8	128713918	splice site	probably benign
IGL01407:Itgb1	APN	8	128722834	missense	probably benign	0.08
IGL03025:Itgb1	APN	8	128722584	missense	possibly damaging	0.96
Drystacked	UTSW	8	128732054	missense	possibly damaging	0.79
Jumble	UTSW	8	128714116	missense	probably damaging	1.00
PIT4377001:Itgb1	UTSW	8	128710383	missense	probably damaging	1.00
R0244:Itgb1	UTSW	8	128717685	splice site	probably benign
R0483:Itgb1	UTSW	8	128726167	missense	possibly damaging	0.79
R0606:Itgb1	UTSW	8	128722372	unclassified	probably benign
R0657:Itgb1	UTSW	8	128722854	missense	possibly damaging	0.96
R0865:Itgb1	UTSW	8	128710251	critical splice acceptor site	probably null
R1052:Itgb1	UTSW	8	128713305	missense	probably damaging	1.00
R1429:Itgb1	UTSW	8	128717676	critical splice donor site	probably null
R1589:Itgb1	UTSW	8	128705458	missense	probably damaging	0.99
R1589:Itgb1	UTSW	8	128705459	missense	possibly damaging	0.95
R1614:Itgb1	UTSW	8	128720065	missense	probably damaging	1.00
R1672:Itgb1	UTSW	8	128732045	missense	probably damaging	1.00
R1723:Itgb1	UTSW	8	128726038	missense	probably damaging	0.98
R1865:Itgb1	UTSW	8	128720457	missense	probably benign	0.01
R3786:Itgb1	UTSW	8	128713358	missense	probably damaging	1.00
R4223:Itgb1	UTSW	8	128714143	missense	probably damaging	1.00
R4756:Itgb1	UTSW	8	128717222	missense	probably damaging	0.98
R4826:Itgb1	UTSW	8	128720308	missense	probably damaging	1.00
R4880:Itgb1	UTSW	8	128716150	missense	probably damaging	1.00
R5202:Itgb1	UTSW	8	128720010	missense	probably damaging	0.99
R5682:Itgb1	UTSW	8	128727068	splice site	probably null
R5935:Itgb1	UTSW	8	128713237	nonsense	probably null
R6156:Itgb1	UTSW	8	128732054	missense	possibly damaging	0.79
R6160:Itgb1	UTSW	8	128720283	missense	possibly damaging	0.95
R6248:Itgb1	UTSW	8	128722421	missense	possibly damaging	0.80
R6812:Itgb1	UTSW	8	128705410	splice site	probably null
R6869:Itgb1	UTSW	8	128720035	missense	probably benign	0.01
R7249:Itgb1	UTSW	8	128720404	missense	probably benign	0.28
R7496:Itgb1	UTSW	8	128720305	missense	probably benign
R7679:Itgb1	UTSW	8	128720448	missense	probably damaging	0.99
R7787:Itgb1	UTSW	8	128727018	missense	probably benign	0.32
R7800:Itgb1	UTSW	8	128713237	missense	possibly damaging	0.89
R8015:Itgb1	UTSW	8	128722401	missense	possibly damaging	0.79
Z1088:Itgb1	UTSW	8	128713369	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTGAAGACATGGACGCTTACTGC -3'
(R):5'- TATGCTCTGCACAGACGCCAAG -3'

Sequencing Primer
(F):5'- CTGCGAGTGTGATAACTTCAACTG -3'
(R):5'- AGACGCCAAGGCAGGTC -3'

Posted On

2013-04-12